CaSR gene A986S polymorphism contributes to the increased risk of primary hyperparathyroidism: A meta-analysis

CaSR variants and primary hyperparathyroidism

Abstract

Primary hyperparathyroidism (PHPT) generally occurs due to mis-regulated secretion of parathyroid hormone. In humans, the CaSR gene is responsible for calcium homeostasis, which regulates parathyroid hormone. By carefully evaluating the published studies, the current meta-analysis assessed the association of CaSR gene R990G (rs1042636) and A986S (rs1801725) polymorphisms with the risk of primary hyperparathyroidism (PHPT). The meta-analysis included 5 studies that focused on CaSR R990G and A986S polymorphisms. Effect measures such as odds ratio (OR) and 95% confidence intervals (CI) were assessed for independent studies. Futrther, the pooled effects were assessed under fixed effects model. The heterogeneity test showed no significant heterogeneity between the pooled studies. Meta-analysis of the CaSR polymorphisms demonstrated that only CaSR A986S polymorphism showed increased risk of PHPT in the dominant model (SS+AS vs. AA: OR = 1.40, 95% CI = 1.13-1.73, P = 0.002). There is no evidence for publication bias in either of these polymorphisms. In conclusion, this meta-analysis supports that the CaSR A986S polymorphism increases the risk of PHPT. Thus, polymorphisms in the CaSR gene may serve as the marker for assessment of the risk of PHPT.